Variant report

Variant	rs12698827
Chromosome Location	chr7:69430748-69430749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12698818	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698821	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698823	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698824	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698828	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698829	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12698831	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698832	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698833	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698837	0.83[EUR][1000 genomes]
rs12698854	0.81[ASN][1000 genomes]
rs12698860	0.81[ASN][1000 genomes]
rs12698863	0.83[ASN][1000 genomes]
rs13221186	0.83[ASN][1000 genomes]
rs13221694	0.86[ASN][1000 genomes]
rs13224557	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13227197	0.81[ASN][1000 genomes]
rs13228686	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13229256	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13238398	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71535673	0.81[ASN][1000 genomes]
rs7785360	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7788868	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv916265	chr7:69367265-69433076	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69427800-69432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:69427800-69432200	Weak transcription	Esophagus	oesophagus
3	chr7:69427800-69432200	Weak transcription	Left Ventricle	heart
4	chr7:69427800-69432200	Weak transcription	Lung	lung
5	chr7:69427800-69432400	Weak transcription	Pancreas	Pancrea
6	chr7:69428000-69432000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:69428000-69432000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:69428000-69432000	Weak transcription	Fetal Brain Male	brain
9	chr7:69428000-69432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:69428000-69432200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:69428000-69432200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:69428000-69432400	Enhancers	Fetal Heart	heart
13	chr7:69428200-69432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:69428200-69432000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:69428200-69432000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:69428200-69432000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:69428200-69432200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:69428200-69432200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:69428200-69432200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:69428200-69432200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:69428200-69432200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:69428200-69432400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:69428400-69432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:69428400-69432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:69428600-69431200	Weak transcription	Fetal Kidney	kidney
26	chr7:69428600-69431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:69428600-69431600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:69428600-69431800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:69428600-69432000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:69428600-69432000	Weak transcription	Fetal Brain Female	brain
31	chr7:69428600-69432000	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:69428600-69432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:69428600-69432200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:69428600-69432200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:69428600-69432200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:69428600-69432200	Weak transcription	Psoas Muscle	Psoas
37	chr7:69428600-69432200	Weak transcription	Right Atrium	heart
38	chr7:69428600-69432200	Weak transcription	Right Ventricle	heart
39	chr7:69428600-69432600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:69428800-69430800	Enhancers	Thymus	Thymus
41	chr7:69428800-69431600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:69428800-69432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:69428800-69432200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:69428800-69432600	Weak transcription	Aorta	Aorta
45	chr7:69429000-69431200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:69429000-69431800	Weak transcription	Fetal Lung	lung
47	chr7:69429000-69432200	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:69429000-69432200	Weak transcription	GM12878-XiMat	blood
49	chr7:69429200-69432000	Weak transcription	Fetal Stomach	stomach
50	chr7:69429200-69432200	Weak transcription	Primary T cells from cord blood	blood

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